ClinVar Miner

Variants in gene PMS2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
437 148 1768 833 116 38 2965

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary nonpolyposis colorectal neoplasms 273 50 1217 402 56 0 1997
Hereditary cancer-predisposing syndrome 156 45 941 532 45 0 1630
not provided 104 36 354 168 26 3 657
not specified 4 0 166 259 79 31 480
Lynch syndrome 95 35 118 18 36 2 292
Hereditary nonpolyposis colorectal cancer type 4 28 23 152 53 35 0 256
Malignant tumor of breast 4 2 25 20 7 0 58
Endometrial carcinoma 14 2 9 8 16 0 49
none provided 1 1 3 5 29 0 39
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 6 1 27 1 0 0 35
Hereditary nonpolyposis colon cancer 22 7 0 0 0 1 30
Lynch syndrome I 4 3 12 3 8 0 27
Carcinoma of colon 11 1 7 4 1 0 24
Turcot syndrome 13 2 6 0 0 1 22
Mismatch repair cancer syndrome 4 12 0 0 0 0 0 12
Hereditary breast and ovarian cancer syndrome 1 0 7 0 0 0 8
Lynch-like syndrome 2 0 5 0 0 0 7
Breast neoplasm 0 0 3 0 1 0 4
Neoplasm of ovary 0 0 0 1 2 0 3
Colon polyps 0 1 1 0 0 0 2
Tumor susceptibility linked to germline BAP1 mutations 1 0 1 0 0 0 2
Burkitt lymphoma; Lymphoma 1 0 0 0 0 0 1
Colorectal cancer, non-polyposis 1 0 0 0 0 0 1
Familial cancer of breast 0 1 0 0 0 0 1
Hereditary cancer 0 0 0 0 0 1 1
Malignant tumor of colon 1 0 0 0 0 0 1
Pituitary carcinoma 0 1 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary insufficiency 1 0 0 0 0 0 1
Rhabdomyosarcoma (disease) 1 0 0 0 0 0 1
Turcot syndrome; Lynch syndrome 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 296 53 1246 456 57 0 2107
Ambry Genetics 126 34 684 348 33 0 1225
Color Health, Inc 67 11 498 319 31 0 925
GeneDx 88 17 274 195 44 0 618
Integrated Genetics/Laboratory Corporation of America 36 19 160 86 25 0 326
Quest Diagnostics Nichols Institute San Juan Capistrano 28 21 116 41 15 0 220
Department of Pathology and Laboratory Medicine,Sinai Health System 41 9 69 47 32 0 198
Counsyl 10 10 85 19 13 0 137
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 58 11 1 6 28 0 104
Illumina Clinical Services Laboratory,Illumina 0 3 44 18 16 0 81
Mendelics 3 3 53 17 4 0 80
PreventionGenetics, PreventionGenetics 4 0 18 18 32 0 72
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 8 1 8 8 29 0 54
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 19 5 19 1 8 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 7 1 23 13 0 0 44
University of Washington Department of Laboratory Medicine, University of Washington 5 3 21 7 4 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 6 2 30 0 39
Fulgent Genetics,Fulgent Genetics 6 1 27 1 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 7 0 1 5 20 0 33
ITMI 0 0 0 0 0 31 31
True Health Diagnostics 3 0 5 17 5 0 30
GeneKor MSA 4 1 19 3 0 0 27
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 13 0 12 0 26
OMIM 19 0 0 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 3 1 10 1 3 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 2 15 0 18
Pathway Genomics 1 2 5 2 7 0 17
Genetic Services Laboratory, University of Chicago 1 0 4 7 4 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 12 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 10 0 14
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 2 6 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 3 0 11
CSER _CC_NCGL, University of Washington 4 2 4 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 8 8
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 2 1 4 1 0 0 8
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 7 0 0 0 7
Constitutional Genetics Lab,Leon Berard Cancer Center 2 0 5 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
Vantari Genetics 1 0 0 3 2 0 6
Ding PR Lab,Sun Yat-sen University Cancer Center 0 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 5
Division of Human Genetics,Medical University Innsbruck 4 0 0 0 0 0 4
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 2 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 1 0 0 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 1 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Gharavi Laboratory,Columbia University 1 1 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetic Laboratory,Instituto Nacional de Cancer 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
Molecular Oncology Research Center,Barretos Cancer Hospital 1 0 0 0 0 0 1

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